Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.R569C

SARM1

102 papers

Pfam Domains

SAM_2aa 409–474UCSCSAM domain (Sterile alpha motif)
SAM_2aa 479–546UCSCSAM domain (Sterile alpha motif)
TIR_2aa 564–696UCSCTIR domain

Gene Aliases

HGNC Name

sterile alpha and TIR motif containing 1

HGNC Alias Symbols

SAMD2; KIAA0524

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_015077.4
p.R569C
c.1705C>T
Surrounding Variants
2 papers
NM_015077.4
p.R570Q
c.1709G>A
1 paper
NM_015077.4
p.N571K
c.1713C>A
1 paper
NM_015077.4
p.N571K
c.1713C>G
1 paper
NM_015077.4
p.I566T
c.1697T>C
1 paper
NM_015077.4
p.S572P
c.1714T>C
1 paper
NM_015077.4
p.V564V
c.1692C>A
1 paper
NM_015077.4
p.D563A
c.1688A>C
1 paper
NM_015077.4
p.L576R
c.1727T>G
5 papers
NM_015077.4
p.S578_L579insC
c.1732_1736ins3
2 papers
NM_015077.4
p.S558N
c.1673G>A
1 paper
NM_015077.4
p.P557_S558delFs
c.1670_1674del5
1 paper
NM_015077.4
p.P557_S558del2
c.1669_1673del6
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